Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency

Neuromuscular Disorders

Volumn 7, Issue SUPPL. 1, 1997, Pages

  Porschke, H ^a   Kress, W ^b   Reichmann, H ^c   Goebel, H H ^d   Grimm, T ^b  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Carnitine deficiency; Chromosome 14; Linkage; Oculopharyngeal muscular dystrophy

Indexed keywords

CARNITINE;

ADULT; AGED; CARNITINE DEFICIENCY; CHROMOSOME 14Q; CLINICAL ARTICLE; CONFERENCE PAPER; CRICOPHARYNGEUS MUSCLE; DYSPHAGIA; EXTRAOCULAR MUSCLE; FAMILY; GENETIC LINKAGE; GERMANY; HAPLOTYPE; HUMAN; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PTOSIS;

ADULT; AGED; BIOPSY; CARNITINE; CHROMOSOMES, HUMAN, PAIR 14; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GERMANY; HUMANS; LINKAGE (GENETICS); MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MITOCHONDRIA; MUSCULAR DYSTROPHIES; OCULOMOTOR MUSCLES; PEDIGREE; PHARYNGEAL MUSCLES; PHENOTYPE; SURAL NERVE;

EID: 0030731710     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00084-9     Document Type: Conference Paper

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